Canonical Allele Identifier: CA466674264

Gene: ELP1

Linked Data

• ClinVar Variation Id: 2812130
• ClinVar RCV Id: RCV003685261
• dbSNP Id: rs1828701840
• gnomAD v4: 9-108899875-T-C
• MyVariant Identifiers: chr9:g.111662155T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108899875T>C , CM000671.2:g.108899875T>C	GRCh38
NC_000009.11:g.111662155T>C , CM000671.1:g.111662155T>C	GRCh37
NC_000009.10:g.110701976T>C	NCBI36
NG_008788.1:g.39454A>G , LRG_251:g.39454A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2151A>G MANE Select	ENSP00000363779.5:p.Glu717=
ENST00000495759.6:c.*761A>G	ENSP00000433514.2:n.*761A>G
ENST00000674535.1:c.2151A>G	ENSP00000502142.1:p.Glu717=
ENST00000674704.1:n.3958A>G
ENST00000674836.1:n.2456A>G
ENST00000674890.1:c.2151A>G	ENSP00000501870.1:p.Glu717=
ENST00000674938.1:c.1809A>G	ENSP00000502427.1:p.Glu603=
ENST00000674948.1:c.1809A>G	ENSP00000501602.1:p.Glu603=
ENST00000675052.1:c.2151A>G	ENSP00000502664.1:p.Glu717=
ENST00000675078.1:c.2151A>G	ENSP00000501549.1:p.Glu717=
ENST00000675215.1:c.*1375A>G	ENSP00000502558.1:n.*1375A>G
ENST00000675233.1:n.3978A>G
ENST00000675321.1:c.2151A>G	ENSP00000502751.1:p.Glu717=
ENST00000675325.1:n.3947A>G
ENST00000675335.1:c.2182A>G	ENSP00000502182.1:n.2182A>G
ENST00000675400.1:n.3824A>G
ENST00000675406.1:c.2151A>G	ENSP00000501893.1:p.Glu717=
ENST00000675458.1:c.2244A>G	ENSP00000501754.1:n.2244A>G
ENST00000675507.1:n.3947A>G
ENST00000675535.1:c.2151A>G	ENSP00000501667.1:p.Glu717=
ENST00000675566.1:n.3947A>G
ENST00000675602.1:n.5199A>G
ENST00000675647.1:n.2456A>G
ENST00000675711.1:c.2151A>G	ENSP00000502485.1:p.Glu717=
ENST00000675727.1:c.2151A>G	ENSP00000501722.1:p.Glu717=
ENST00000675748.1:n.3785A>G
ENST00000675765.1:c.2151A>G	ENSP00000502640.1:p.Glu717=
ENST00000675825.1:c.2151A>G	ENSP00000502632.1:p.Glu717=
ENST00000675877.1:n.2456A>G
ENST00000675893.1:c.*3220A>G	ENSP00000502001.1:n.*3220A>G
ENST00000675943.1:n.5766A>G
ENST00000675979.1:c.*1394A>G	ENSP00000502208.1:n.*1394A>G
ENST00000676044.1:c.2151A>G	ENSP00000502378.1:p.Glu717=
ENST00000676086.1:n.3936A>G
ENST00000676121.1:n.3979A>G
ENST00000676237.1:c.2052A>G	ENSP00000501828.1:p.Glu684=
ENST00000676416.1:c.1809A>G	ENSP00000501660.1:p.Glu603=
ENST00000676424.1:n.3947A>G
ENST00000676429.1:n.6620A>G
ENST00000374647.9:c.2151A>G	ENSP00000363779.5:p.Glu717=
ENST00000537196.1:c.1104A>G	ENSP00000439367.1:p.Glu368=
NM_003640.3:c.2151A>G , LRG_251t1:c.2151A>G	NP_003631.2:p.Glu717=
XM_005252285.2:c.1809A>G	XP_005252342.1:p.Glu603=
XM_011519136.1:c.2151A>G	XP_011517438.1:p.Glu717=
XM_011519137.1:c.1809A>G	XP_011517439.1:p.Glu603=
XR_929859.1:n.2467A>G
NM_001318360.1:c.1809A>G	NP_001305289.1:p.Glu603=
NM_001330749.1:c.1104A>G	NP_001317678.1:p.Glu368=
NM_003640.4:c.2151A>G	NP_003631.2:p.Glu717=
XM_011519136.2:c.2151A>G	XP_011517438.1:p.Glu717=
XR_929859.3:n.2478A>G
NM_003640.5:c.2151A>G MANE Select	NP_003631.2:p.Glu717=
NM_001318360.2:c.1809A>G	NP_001305289.1:p.Glu603=
NM_001330749.2:c.1104A>G	NP_001317678.1:p.Glu368=